학술논문
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'학술논문'
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1~20
Academic Journal
Vissing, J; Atula, S; Savolainen, M; Mehtala, J; Mehkri, L; Olesen, TB; Ylisaukko-oja, T; Lindberg-Schager, I; Berggren, F; Piehl, F
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 95(10):919-926
Academic Journal
Bjorkman, K; Vissing, J; ostergaard, E; Bindoff, LA; de, Coo IFM; Engvall, M; Hikmat, O; Isohanni, P; Kollberg, G; Lindberg, C
JOURNAL OF MEDICAL GENETICS. 60(1):65-73
Academic Journal
Weisshardt I; LLH Concepts GbR, Haimhausen, Germany.; Reyes Acosta C; LLH Concepts GbR, Haimhausen, Germany.; Chauhan T; The University of Liverpool, Liverpool, United Kingdom.; Haralampiev K; Sofia University, Sofia, Bulgaria.; Mušura Gabor A; Behavioral and Experimental Economics Lab, Zagreb School of Economics and Management, Zagreb, Croatia.; Rodriguez A; MG Georgia, Atlanta, GA, United States.; Foss A; Myasthenia Gravis Association (MGA), Kansas City, MO, United States.; Pinto A; Division of Clinical Neuroscience, University of Southampton, Southampton, United Kingdom.; Hewamadduma C; Academic Neuromuscular Unit, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, United Kingdom.; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, United Kingdom.; Vissing J; Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Silvestri NJ; Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, United States.; Lehnerer S; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.; De Backer M; UCB, Brussels, Belgium.; Monin N; UCB, Malvern, VIC, Australia.; Barry S; UCB, Dublin, Ireland.; Vlaev I; Centre for Behavioral and Implementation Science Interventions (BISI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Academic Journal
Piehl, F; Vissing, J; Mehtaelae, J; Berggren, F; Lindberg-Schager, I; Pitsi, D; Tsitlakidis, E; Vesikansa, A; Vaeaenaenen, R-M; Ylisaukko-oja, T
EUROPEAN JOURNAL OF NEUROLOGY. 31(12)
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
Academic Journal
Smeitink, J.A.M.; van Es, J.; Bosman, B.; Janssen, M.C.H.; Klopstock, T.; Gorman, G.; Vissing, J.; Ruiterkamp, G.; Edgar, C.J.; Abbink, E.J.; van Maanen, R.; Pogoryelova, O.; Stendel, C.; Bischoff, A.; Karin, I.; Munshi, M.; Kümmel, A.; Burgert, L.; Verhaak, C.M.; Renkema, H.
Brain
Brain 148(3), 896-907 (2025). doi:10.1093/brain/awae277
Brain, 148, 3, pp. 896-907
Brain 148(3), 896-907 (2025). doi:10.1093/brain/awae277
Brain, 148, 3, pp. 896-907
Academic Journal
Warman-Chardon J; Department of Medicine (Neurology), The Ottawa Hospital/Research Institute; University of Ottawa, Canada; Department of Genetics, Children's Hospital of Eastern Ontario/Research Institute, Canada. Electronic address: jwarman@toh.ca.; Straub V; John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute. Newcastle University, UK.; Vissing J; Copenhagen Neuromuscular Center, Copenhagen University Hospital, Rigshospitalet, Denmark; University of Copenhagen, Denmark.; Schlaeger S; Department of Radiology, LMU University Hospital, LMU Munich, Munich, Germany.; Kan HE; Department of Radiology, C.J. Gorter MRI Center, Leiden University Medical Center, Leiden, the Netherlands.
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Academic Journal
Mads G. Stemmerik; Benjamin Barthel; Nanna R. Andersen; Sofie V. Skriver; Alan J. Russell; John Vissing
Annals of Clinical and Translational Neurology, Vol 12, Iss 5, Pp 998-1011 (2025)
Academic Journal
Cornelia Reyes Acosta; Ivo Vlaev; Alexis Rodriguez; Allison Foss; Ashwin Pinto; Channa Hewamadduma; John Vissing; Nicholas J. Silvestri; Sophie Lehnerer; Marc De Backer; Natasha Monin; Sophie Barry; Ina Weisshardt
Neurology and Therapy, Vol 14, Iss 4, Pp 1419-1438 (2025)
Academic Journal
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Statland JM; Department of Neurology, University of Kansas Medical Center, Lawrence, KS, USA.; Hayward LJ; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Rosenbohm A; Department of Neurology, Ulm University Hospital, Ulm, Germany.; López de Munain A; Neurociences Research Centre, University Hospital Donostia, Donostia, San Sebastián, Spain.; Sacconi S; Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Nice University Hospital, Nice, France / Institute for Research on Cancer and Aging of Nice, CNRS, INSERM, Côte d'Azur University, Nice, France.; Leung DG; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.; Badrising UA; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Schoser B; Department of Neurology LMU Clinic, Friedrich-Baur-Institute, Munich, Germany.; Muelas N; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Lochmüller H; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Bugiardini E; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Biomedical Research Centre, National Institute for Health Research, University College London Hospitals, London, UK.; Wang LH; Department of Neurology, University of Washington, Seattle, Washington, USA.; Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Ragole T; Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA.; Pestronk A; Departments of Neurology and Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO, USA.; Hamel JI; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.; Goyal NA; Department of Neurology, University of California, Irvine, Orange, CA, USA.; Korngut L; Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.; Naddaf E; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Harper A; Department of Neurology, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, VA, USA.; Shieh PB; Departments of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, CA, USA.; Kornblum C; Department of Neuromuscular Diseases, Center for Neurology, University Hospital Bonn, Bonn, Germany.; Sansone V; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Genge A; Neurology Clinic, The Neuro - Montreal Neurological Institute Hospital, Montreal, Canada.; Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.; Jiang J; Fulcrum Therapeutics, Inc., Cambridge, MA, USA.; Jouvin MH; Fulcrum Therapeutics, Inc., Cambridge, MA, USA.; Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Academic Journal
Bhai, S. ; Fatehi, F. ; Gupta, V.A. ; Ferreiro, A. ; Kleefeld, F. ; Kruijt, N. ; Laforet, P. ; Liewluck, T. ; Lucia, A. ; McMahon, G. ; Oates, E. ; O'Connor, F. ; Oldfors, A. ; Quinlivan, R. ; Ravenscroft, G. ; Riazi, S. ; Roos, A. ; Roux-Buisson, N. ; Schoser, B. ; Siciliano, G. ; Stemmerik, M. ; Vissing, J. ; Voermans, N. ; Kruijt, Nick ; Laforet, Pascal ; Vissing, John ; Bhai, Salman ; Stemmerik, Mads Godtfeldt ; Kleefeld, Felix ; Voermans, Nicol C.
In Neuromuscular Disorders May 2025 50
Academic Journal
Lindsay N. Alfano; Meredith K. James; Kristine Grosfjeld Petersen; Karen Rudolf; John Vissing; Renee Augsburger; Tahseen Mozaffar; Aileen Jones; Amanda Butler; Katie M. Laubscher; Shelley R. H. Mockler; Katherine D. Mathews; Megan A. Iammarino; Natalie F. Reash; Lindsay Pietruszewski; Linda P. Lowes; Talia Strahler; Matthew Wicklund; Stephanie Hunn; Conrad C. Weihl; Sandhya Sasidharan; Melissa Currence; Jeffrey M. Statland; Nikia Stinson; Megan Holzer; Doris G. Leung; Donovan J. Lott; Peter B. Kang; Scott Holsten; Urvi Desai; Nicholas E. Johnson; the GRASP‐LGMD Consortium
Annals of Clinical and Translational Neurology, Vol 12, Iss 2, Pp 332-344 (2025)
Academic Journal
Vulto-van Silfhout, A.T.; Jazet, I.M.; Yzer, S.; Pas, J.A.A.H.; Demirdas, S.; van Rossum, E.F.C.; Thiadens, A.A.H.J.; van Beek, R.; Haer-Wigman, L.; Barge-Schaapveld, D.Q.C.M.; Brasch-Andersen, C.; Frost, S.; Bauwens, M.; De Baere, E.; Balikova, I.; Van den Broeck, F.; Weisz-Hubshman, M.; Joset, P.; Miny, P.; Filges, I.; Kohl, S.; De Angeli, P.; Kühlewein, L.; Bodenbender, J.P.; Haack, T.; Poths, K.; Fernandez-Caballero, L.; Corton, M.; Blanco Kelly, F.; Ayuso, C.; Martínez-Esteban, P.; Vissing, J.; Díaz-Manera, J.; Straub, V.; Töpf, A.; Lin, S.; Arno, G.; Macken, W.L.; Spillane, J.; Ramachandran, R.; de Vrieze, E.; van Ham, T.; Roosing, S.; Oud, M.M.
Silfhout, A V, Jazet, I M, Yzer, S, Pas, J , Demirdas, S, van Rossum, E F C, Thiadens, A A H J , van Beek, R, Haer-Wigman, L, Barge-Schaapveld, D Q C M, Brasch-Andersen, C, Frost, S, Bauwens, M, Baere, E D, Balikova, I, den Broeck, F V, Weisz-Hubshman, M, Joset, P, Miny, P, Filges, I, Kohl, S, Angeli, P D, Kühlewein, L, Bodenbender, J -P, Haack, T, Poths, K, Fernandez-Caballero, L, Corton, M, Kelly, F B, Ayuso, C, Martínez-Esteban, P, Vissing , J , Díaz-Manera, J , Straub, V, Töpf, A, Lin, S, Arno, G, Macken, W L, Spillane, J , Ramachandran, R, de Vrieze, E, van Ham, T, Roosing, S & Oud, M M 2025, 'Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy', Genetics in Medicine, vol. 27, no. 10, 101513. https://doi.org/10.1016/j .gim.2025.101513
Academic Journal
Lyu Z; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Joensen H; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Fornander F; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Solheim TÅ; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Dunø M; Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Schirinzi E; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Bochicchio MA; Department of Computer Science, University of Bari Aldo Moro, Bari, Italy.; Lochmüller H; Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Jordie-Diaz-Manerae; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Neurology Department, Neuromuscular Disorders Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.; Evangelista T; AP-HP, H. Pitié-Salpêtrière, Institut de Myologie, Unité de Morphologie Neuromusculaire, Paris, France.; AP-HP, H. Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Paris, France.; Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, France.; Plançon JP; European Patient Organisation for Dysimmune and Inflammatory Neuropathies (EPODIN) and EURO-NMD Educational board, Paris, France.; Fanucci L; Department of Information Engineering, University of Pisa, Pisa, Italy.; Marini M; Department of Information Engineering, University of Pisa, Pisa, Italy.; Tonacci A; Institute of Clinical Physiology, National Research Council - CNR, Pisa, Italy.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.; Segovia-Kueny S; AFM Telethon, Paris, France.; Toscano A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.; Angelini C; Department Neurosciences, Padova University School of Medicine, Padova, Italy.; Schoser B; Department of Neurology, Ludwig-Maximilians-University Munich, Munich, Germany.; Sacconi S; Peripheral Nervous System and Muscle Department, Université Cúte d'Azur (UCA), Centre Hospitalier Universitaire de Nice, Rare Neuromuscular Disease Reference Center, ERN-Euro-NMD, Nice, France.; Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Academic Journal
Bril V; University Health Network, Toronto, ON, Canada.; Drużdż A; Department of Neurology, Municipal Hospital Poznań, Poznań, Poland.; Grosskreutz J; Precision Neurology, Department of Neurology, University of Lübeck, Lübeck, Germany.; Habib AA; MDA ALS & Neuromuscular Center, Department of Neurology, University of California, Irvine, Orange, CA, USA.; Mantegazza R; Emeritus and Past Director, Department of Neuroimmunology and Neuromuscular Diseases, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.; Sacconi S; Université Côte d'Azur, Peripheral Nervous System and Muscle Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, Nice, France.; Utsugisawa K; Department of Neurology, Hanamaki General Hospital, Hanamaki, Iwate Prefecture, Japan.; Vu T; Department of Neurology, University of South Florida Morsani College of Medicine, Tampa, FL, USA.; Boehnlein M; UCB, Monheim, Germany.; Greve B; UCB, Monheim, Germany.; Gayfieva M; UCB, Slough, UK.; Woltering F; UCB, Monheim, Germany.; Tarancón T; UCB, Madrid, Spain.; Vissing J; Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Academic Journal
Amel Karaa; Enrico Bertini; Valerio Carelli; Bruce Cohen; Gregory M. Ennes; Marni J. Falk; Amy Goldstein; Gráinne Gorman; Richard Haas; Michio Hirano; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Costanza Lamperti; Anna Lehman; Nicola Longo; Maria Judit Molnar; Sumit Parikh; Han Phan; Robert D. S. Pitceathly; Russekk Saneto; Fernando Scaglia; Serenella Servidei; Mark Tarnopolsky; Antonio Toscano; Johan L. K. Van Hove; John Vissing; Jerry Vockley; Jeffrey S. Finman; Anthony Abbruscato; David A. Brown; Alana Sullivan; James A. Shiffer; Michelango Mancuso; on behalf of the MMPOWER-3 Trial Investigators
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Academic Journal
Journal of Neurology. 272(1)
Academic Journal
Ulrikka Nygaard; Annelaura Bach Nielsen; Kia Hee Schultz Dungu; Lylia Drici; Mette Holm; Maud Eline Ottenheijm; Allan Bybeck Nielsen; Jonathan Peter Glenthøj; Lisbeth Samsø Schmidt; Dina Cortes; Inger Merete Jørgensen; Trine Hyrup Mogensen; Kjeld Schmiegelow; Matthias Mann; Nadja Hawwa Vissing; Nicolai J. Wewer Albrechtsen
Communications Biology, Vol 7, Iss 1, Pp 1-10 (2024)
Academic Journal
Bril V; Ellen and Martin Prosserman Centre for Neuromuscular Diseases, Toronto General Hospital, University of Toronto, Toronto, Ontario, Canada. vera.bril@utoronto.ca.; Drużdż A; Department of Neurology, Municipal Hospital, Poznań, Poland.; Grosskreutz J; Precision Neurology of Neuromuscular Diseases, Department of Neurology, University of Lübeck, Lübeck, Germany.; Habib AA; MDA ALS and Neuromuscular Center, Department of Neurology, University of California, Irvine, Orange, CA, USA.; Kaminski HJ; Department of Neurology and Rehabilitation Medicine, George Washington University, Washington, DC, USA.; Mantegazza R; Department of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.; Sacconi S; Université Côte d'Azur, Peripheral Nervous System and Muscle Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, Nice, France.; Utsugisawa K; Department of Neurology, Hanamaki General Hospital, Hanamaki, Japan.; Vu T; Department of Neurology, University of South Florida Morsani College of Medicine, Tampa, FL, USA.; Boehnlein M; UCB, Monheim, Germany.; Gayfieva M; UCB, Slough, UK.; Greve B; UCB, Monheim, Germany.; Woltering F; UCB, Monheim, Germany.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
342P Use of psychopharmacological drug in Duchenne muscular dystrophy: a European multi-centre study
Academic Journal
Muntoni, F.; Weerkamp, P.; Miranda, R.; Collin, P.; Vroom, E.; Niks, E.; Vissing, J.; Desquerre, I.; Straub, V.; Mercuri, E.; Hendriksen, J.
Neuromuscular Disorders. 43
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